ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825765912
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197504
ClinVar RCV Id:
RCV000245703
RCV000711564
RCV001085998
RCV001274849
RCV001449590
RCV002466461
RCV003891739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Ile1615Thr
CA275275
NM_001130984.2:c.4844T>C